{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411479105",
  "communityStandardTitle": [
    "NM_152243.3(CDC42EP1):c.937G>T (p.Ala313Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2277168[alleleid]",
        "alleleId": 2277168,
        "preferredName": "NM_152243.3(CDC42EP1):c.937G>T (p.Ala313Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2294713",
        "RCV": [
          "RCV004142810"
        ],
        "variationId": 2294713
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37964588G>T?assembly=hg19",
        "id": "chr22:g.37964588G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.37568581G>T?assembly=hg38",
        "id": "chr22:g.37568581G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757357232",
        "rs": 757357232
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-37568581-G-T?dataset=gnomad_r4",
        "id": "22-37568581-G-T",
        "variant": "22:37568581 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 37568581,
          "referenceAllele": "G",
          "start": 37568580
        }
      ],
      "hgvs": [
        "NC_000022.11:g.37568581G>T",
        "CM000684.2:g.37568581G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 37964588,
          "referenceAllele": "G",
          "start": 37964587
        }
      ],
      "hgvs": [
        "NC_000022.10:g.37964588G>T",
        "CM000684.1:g.37964588G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 36294534,
          "referenceAllele": "G",
          "start": 36294533
        }
      ],
      "hgvs": [
        "NC_000022.9:g.36294534G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16437,
          "referenceAllele": "C",
          "start": 16436
        }
      ],
      "hgvs": [
        "NG_012096.1:g.16437C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002180"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "ENST00000249014.5:c.937G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249014.4:p.Ala313Ser",
        "hgvsWellDefined": "ENSP00000249014.4:p.Ala313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741387",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249014.5:c.937G>T"
          },
          "RefSeq": {
            "hgvs": "NM_152243.3:c.937G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249014.4:p.Ala313Ser"
          },
          "RefSeq": {
            "hgvs": "NP_689449.1:p.Ala313Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "referenceAllele": "G",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "ENST00000249014.4:c.937G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000249014.4:p.Ala313Ser",
        "hgvsWellDefined": "ENSP00000249014.4:p.Ala313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249593"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580517175",
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "NM_152243.2:c.937G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689449.1:p.Ala313Ser",
        "hgvsWellDefined": "NP_689449.1:p.Ala313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "XM_006724107.1:c.937G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724170.1:p.Ala313Ser",
        "hgvsWellDefined": "XP_006724170.1:p.Ala313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075359"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1344,
          "referenceAllele": "G",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "XM_006724108.1:c.937G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724171.1:p.Ala313Ser",
        "hgvsWellDefined": "XP_006724171.1:p.Ala313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "XM_006724109.1:c.937G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724172.1:p.Ala313Ser",
        "hgvsWellDefined": "XP_006724172.1:p.Ala313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075361"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1331,
          "referenceAllele": "G",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "XM_006724107.2:c.937G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724170.1:p.Ala313Ser",
        "hgvsWellDefined": "XP_006724170.1:p.Ala313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1355,
          "referenceAllele": "G",
          "start": 1354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "XM_017028541.1:c.937G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884030.1:p.Ala313Ser",
        "hgvsWellDefined": "XP_016884030.1:p.Ala313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580517175",
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "G",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "NM_152243.3:c.937G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689449.1:p.Ala313Ser",
        "hgvsWellDefined": "NP_689449.1:p.Ala313Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672254",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000249014.5:c.937G>T"
          },
          "RefSeq": {
            "hgvs": "NM_152243.3:c.937G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000249014.4:p.Ala313Ser"
          },
          "RefSeq": {
            "hgvs": "NP_689449.1:p.Ala313Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}